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Workflow: Structural variation


Date: 8th June 2021

Resolving structural variants with long nanopore sequencing reads

Structural variants (SVs), defined as variants spanning 50 bp or more, account for ten times as many variant bases as single nucleotide polymorphisms (SNPs) in the human genome. With known causative effects in an extensive range of both normal and aberrant phenotypes, the need to comprehensively characterise SVs is becoming increasingly clear. Long native DNA reads produced by nanopore sequencing devices greatly improve the accuracy of detection of even the largest of SVs, including those regions inaccessible to other technologies.

Here, we present a simple workflow for an effective whole-genome SV survey from a human blood sample, using the PromethION™ sequencing device.

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